Search for dissertations about: "Mutations"

Showing result 1 - 5 of 1635 swedish dissertations containing the word Mutations.

2. 1. Experimental Evolution : and Fitness Effects of Mutations

   Author : Anna Knöppel; Dan I Andersson; Stanley Maloy; Uppsala universitet; []
   Keywords : NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Experimental evolution; Fitness effects; mutations; S20; fis; ribosome; horizontal gene transfer; adaptation; synonymous mutations; Mikrobiologi; Microbiology;

   Abstract : Bacteria have small, streamlined genomes and evolve rapidly. Their large population sizes allow selection to be the main driver of evolution. With advances in sequencing technologies and precise methods for genetic engineering, many bacteria are excellent models for studying elementary questions in evolutionary biology. READ MORE

4. 2. Recurrent Genetic Mutations in Lymphoid Malignancies

   Author : Emma Young; Richard Rosenquist; Larry Mansouri; Lesley Ann Sutton; Dimitar Efremov; Uppsala universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Lymphoid malignancies; mutations; CLL; stereotypy; subsets; PMBL; NFKBIE; EGR2; whole-genome sequencing; Molekylär genetik; Molecular Genetics; Oncology; Onkologi;

   Abstract : In recent years, the genetic landscape of B-cell derived lymphoid malignancies, including chronic lymphocytic leukemia (CLL), has been rapidly unraveled, identifying recurrent genetic mutations with potential clinical impact. Interestingly, ~30% of all CLL patients can be assigned to more homogeneous subsets based on the expression of a similar or “stereotyped” B-cell receptor (BcR). READ MORE

5. 3. Haemophilia in Sweden – Studies on mutations and clinical implications

   Author : Annika Mårtensson; Enheten för pediatrisk hematologi; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; haemophilia; factor VIII; factor IX; factor 8 gene; factor 9 gene; carriers; prenatal diagnosis; mutations; inhibitors; haplotype;

   Abstract : Introduction: Haemophilia A (HA) and B (HB) are two of our most common inherited bleeding disorders and are due to a variety of gene mutations. Aims: The overall objective of the present research was to perform clinical and basic scientific studies on haemophilia in Sweden to further improve and individualise the care of haemophilia patients and their relatives. READ MORE

6. 4. Hereditary Colorectal Cancer; Identification, Characterization and Classification of Mutations

   Author : Anna Rohlin; Göteborgs universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Hereditary Colorectal cancer; FAP; AFAP; mutations; mosaic mutation; exome sequencing; massively parallel sequencing; next generation sequencing; atypical polyposis; APC; POLE; GREM1; PPAP;

   Abstract : Hereditary factors are thought to play are role in 20-30% of all colorectal cancers Around 6% are found as high penetrant disease-causing mutations in genes correlated to hereditary polyposis or hereditary non-polyposis syndromes. The aim of this thesis was to identify new causative genes and variants and also mutation mechanisms in families presenting a polyposis, atypical polyposis or nonpolyposis CRC phenotype. READ MORE

7. 5. From Tissue to Mutations : Genetic Profiling of Colorectal Cancer

   Author : Lucy Mathot; Tobias Sjöblom; Mats Nilsson; Alberto Bardelli; Uppsala universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Nucleic acid extraction; genotyping; targeted sequencing; mutation analysis; colorectal cancer; metastatic disease; Medical Science; Medicinsk vetenskap;

   Abstract : Comprehensive characterisation of the mutational landscapes of solid tumours is a multistep process involving the collection of suitable samples, the extraction of nucleic acids and the preparation of these materials for mutational analyses. In this thesis, I aimed to develop a streamlined process for the analysis of colorectal cancer (CRC) patient samples in order to identify novel mutations that hallmark the development of advanced disease. READ MORE